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Identification and characterization of OSTL (RNF217) encoding a RING-IBR-RING protein adjacent to a translocation breakpoint involving ETV6 in childhood ALL.
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- معلومة اضافية
- المصدر:
Publisher: Nature Publishing Group Country of Publication: England NLM ID: 101563288 Publication Model: Electronic Cited Medium: Internet ISSN: 2045-2322 (Electronic) Linking ISSN: 20452322 NLM ISO Abbreviation: Sci Rep Subsets: MEDLINE
- بيانات النشر:
Original Publication: London : Nature Publishing Group, copyright 2011-
- الموضوع:
- نبذة مختصرة :
Genomic aberrations involving ETV6 on band 12p13 are amongst the most common chromosomal abnormalities in human leukemia. The translocation t(6;12)(q23;13) in a childhood B-cell acute lymphoblastic leukemia (ALL) cell line fuses ETV6 with the putative long non-coding RNA gene STL. Linking STL properties to leukemia has so far been difficult. Here, we describe a novel gene, OSTL (annotated as RNF217 in Genbank), which shares the first exon and a CpG island with STL but is transcribed in the opposite direction. Human RNF217 codes for a highly conserved RING finger protein and is mainly expressed in testis and skeletal muscle with different splice variants. RNF217 shows regulated splicing in B cell development, and is expressed in a number of human B cell leukemia cell lines, primary human chronic myeloid leukemia, acute myeloid leukemia with normal karyotype and acute T-ALL samples. Using a yeast two-hybrid screen, we identified the anti-apoptotic protein HAX1 to interact with RNF217. This interaction could be mapped to the C-terminal RING finger motif of RNF217. We propose that some of the recurring aberrations involving 6q might deregulate the expression of RNF217 and result in imbalanced apoptosis signalling via HAX1, promoting leukemia development.
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- Grant Information:
101880 United Kingdom WT_ Wellcome Trust; 18131 United Kingdom CRUK_ Cancer Research UK; R01 CA137060 United States CA NCI NIH HHS
- الرقم المعرف:
0 (Adaptor Proteins, Signal Transducing)
0 (Carrier Proteins)
0 (HAX1 protein, human)
0 (Protein Isoforms)
0 (Proto-Oncogene Proteins c-ets)
0 (RNA, Long Noncoding)
0 (RNF217 protein, human)
0 (Recombinant Fusion Proteins)
0 (Repressor Proteins)
- الموضوع:
Date Created: 20141010 Date Completed: 20151103 Latest Revision: 20240210
- الموضوع:
20240210
- الرقم المعرف:
PMC4190505
- الرقم المعرف:
10.1038/srep06565
- الرقم المعرف:
25298122
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